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Epileptic encephalopathy

Gene: SLC35A2

Green List (high evidence)

SLC35A2 (solute carrier family 35 member A2)
EnsemblGeneIds (GRCh38): ENSG00000102100
EnsemblGeneIds (GRCh37): ENSG00000102100
OMIM: 314375, Gene2Phenotype
SLC35A2 is in 7 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green: SLC35A2 added to panel after March 2017 OMIM updates. 2 papers with 4 unrelated patients supporting association between SLC35A2 and EE. Green rating confirmed by Arianna Tucci.
Created: 11 May 2017, 12:08 p.m.
In 3 unrelated Japanese girls with early infantile epileptic encephalopathy (age 8, 10 and 12), Kodera et al. (2013, PMID:24115232) identified 3 different de novo heterozygous mutations in the SLC35A2 gene. 2 of the mutations resulted in truncated proteins, suggesting a loss of function, and 1 was a missense mutation with no functional studies.
Created: 11 May 2017, 12:07 p.m.
PMID:27743886 (Kimizu et al., 2017) report a female infant with early onset epileptic encephalopathy and developmental delay (amongst other symptoms). She had a frameshift mutation (c.950delG, p.Gly317Alafs*32) in SLC35A2.
Created: 11 May 2017, 12:07 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Congenital disorder of glycosylation, type IIm, 300896 (includes Epileptic encephalopathy); Epileptic encephalopathy, early infantile, 22 (EIEE22); early-onset epileptic encephalopathy

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Congenital disorder of glycosylation, type IIm, 300896 (includes Epileptic encephalopathy)
  • Epileptic encephalopathy, early infantile, 22 (EIEE22)
  • early-onset epileptic encephalopathy
OMIM
314375
Clinvar variants
Variants in SLC35A2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for SLC35A2 were set to 24115232; 27743886

11 May 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

SLC35A2 was added to Epileptic encephalopathypanel. Sources: Other

11 May 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SLC35A2 was created by rfoulger